22-23793593-C-T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_003073.5(SMARCB1):c.267C>T(p.Thr89=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000128 in 1,613,844 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. T89T) has been classified as Likely benign.
Frequency
Consequence
NM_003073.5 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMARCB1 | NM_003073.5 | c.267C>T | p.Thr89= | synonymous_variant | 3/9 | ENST00000644036.2 | |
SMARCB1 | NM_001362877.2 | c.267C>T | p.Thr89= | synonymous_variant | 3/9 | ||
SMARCB1 | NM_001317946.2 | c.240C>T | p.Thr80= | synonymous_variant | 3/9 | ||
SMARCB1 | NM_001007468.3 | c.240C>T | p.Thr80= | synonymous_variant | 3/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMARCB1 | ENST00000644036.2 | c.267C>T | p.Thr89= | synonymous_variant | 3/9 | NM_003073.5 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.000730 AC: 111AN: 152068Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000159 AC: 40AN: 251492Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135920
GnomAD4 exome AF: 0.0000650 AC: 95AN: 1461776Hom.: 0 Cov.: 32 AF XY: 0.0000536 AC XY: 39AN XY: 727188
GnomAD4 genome ? AF: 0.000730 AC: 111AN: 152068Hom.: 1 Cov.: 32 AF XY: 0.000592 AC XY: 44AN XY: 74266
ClinVar
Submissions by phenotype
not specified Benign:2
Benign, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Mar 14, 2017 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Mar 12, 2018 | - - |
Hereditary cancer-predisposing syndrome Benign:2
Benign, criteria provided, single submitter | curation | Sema4, Sema4 | Feb 17, 2021 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 06, 2017 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 25, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at